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Page 1
Deletion 5q35.3.
Stratton RF, Tedrowe NA, Tolworthy JA, Patterson RM, Ryan SG, Young RS. Stratton RF, et al. Am J Med Genet. 1994 Jun 1;51(2):150-2. doi: 10.1002/ajmg.1320510214. Am J Med Genet. 1994. PMID: 8092192
We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental …
We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares …
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N, Singh J, Padgett RA, Gu X, Phillips JG, Clemente M, Parker Y, Lindner D, Dienes B, Jankowsky E, Saunthararajah Y, Du Y, Oakley K, Nguyen N, Mukherjee S, Pabst C, Godley LA, Churpek JE, Pollyea DA, Krug U, Berdel WE, Klein HU, Dugas M, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Yoshida K, Ogawa S, Müller-Tidow C, Maciejewski JP. Polprasert C, et al. Cancer Cell. 2015 May 11;27(5):658-70. doi: 10.1016/j.ccell.2015.03.017. Epub 2015 Apr 23. Cancer Cell. 2015. PMID: 25920683 Free PMC article.
Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion i …
Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene …
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.

Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). ...However, all features present in patients with microdeletions were also observed in patients with mutations, and there was

…
Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < …
Chromosome 5q subtelomeric deletion syndrome.
Rauch A, Dörr HG. Rauch A, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. doi: 10.1002/ajmg.c.30151. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910075 Review.
Larger terminal deletions including also chromosomal bands 5q35.1 and 5q35.2 cause a more severe phenotype with normal body length, significant congenital heart defect, microcephaly, profound developmental retardation or early death due to respiratory failure …
Larger terminal deletions including also chromosomal bands 5q35.1 and 5q35.2 cause a more severe phenotype with normal …
Cytogenomic features of Richter transformation.
Woroniecka R, Rymkiewicz G, Bystydzienski Z, Pienkowska-Grela B, Rygier J, Malawska N, Wojtkowska K, Goral N, Blachnio K, Chmielewski M, Bartnik-Glaska M, Grygalewicz B. Woroniecka R, et al. Mol Cytogenet. 2023 Nov 8;16(1):31. doi: 10.1186/s13039-023-00662-0. Mol Cytogenet. 2023. PMID: 37941034 Free PMC article.
The most frequent alterations (40-60% of cases) were represented by MYC rearrangement/gain, deletions of TP53 and CDKN2A, IGH rearrangement and 13q14 deletion. Several other frequent lesions included losses of 14q24.1-q32.33, 7q31.33-q36.3, and gain of 5q35.2 …
The most frequent alterations (40-60% of cases) were represented by MYC rearrangement/gain, deletions of TP53 and CDKN2A, IGH rearran …
A novel 5q35.3 subtelomeric deletion syndrome.
Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893
After the report of 5q35.3 microdeletions in Sotos syndrome we integrated the published BACs into the public draft sequence and exactly mapped the deletion size in our patient by FISH analysis with 15 BAC probes. ...The prenatal nuchal lymphedema associated w …
After the report of 5q35.3 microdeletions in Sotos syndrome we integrated the published BACs into the public draft sequence an …
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Masri A, Gimelli S, Hamamy H, Sloan-Béna F. Masri A, et al. Am J Med Genet A. 2014 May;164A(5):1254-61. doi: 10.1002/ajmg.a.36412. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478242
Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial 2.3 Mb deletion of 5q35.3 in combination with a large 19.5 Mb duplication of chromosome 10 from q25.3 to q26.3. ...
Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial …
Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report.
Lee H, Kim JS, Lim SH, Sul B, Hong BY. Lee H, et al. Ann Rehabil Med. 2018 Dec;42(6):884-887. doi: 10.5535/arm.2018.42.6.884. Epub 2018 Dec 28. Ann Rehabil Med. 2018. PMID: 30613082 Free PMC article.
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. ...Several deformities of the cervical spine seen in this patient have not been associated with the 5q …
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible g …
146 results